Investigating the Genetic Basis of Hereditary Spastic Paraplegia

What this Trial Is About

This research aims to better understand the role of genetics in hereditary spastic paraplegia (HSP), a group of over 80 inherited neurological diseases characterized by progressive muscle stiffness and spasticity. HSP is the most common inherited cause of spasticity and related disability, affecting 2-5 people per 100,000 worldwide. Childhood-onset cases often face delayed diagnosis due to non-specific early symptoms, and genetic testing is not yet standard practice for children with spastic paraplegia. The study collects detailed information about symptoms and uses advanced DNA analysis techniques to identify genetic changes, such as single nucleotide variations or copy number variants, in individuals with HSP and related disorders. Researchers will also examine how these genetic findings correlate with different clinical features of HSP. This observational study involves participants aged 1 to 30 years and is sponsored by Boston Children's Hospital. Participants contribute by providing detailed health information and genetic samples for analysis. The research team will measure the identification of genetic findings and their correlation with clinical features over about one year. The study does not involve experimental treatments but focuses on improving understanding of HSP genetics to support future treatment development. The total participation time and specific assessments vary, but the study emphasizes detailed phenotype and genotype data collection.

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)